Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)

TEST CODE MG01600
TEST NAME Congenital Adrenal Hyperplasia (21 Hydroxylase Deficiency)
RELATED GENE CYP21A2
SYNONYMOUS CYP21A2
OMIM 201910
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Adrenal Hyperplasia is an autosomal recessive disease. Mutations in the CYP21A2 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY X
TAT 40 DAYS

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